Clinical reasoning: A two-day old boy with sudden cardiac arrest and encephalopathy

Our clinical reasoning paper describes a unique case of the rare neonatal form of CPT2 deficiency. Our patient developed acute clinical decompensation on day two of life followed by encephalopathy, hypotonia, and weakness. Our manuscript guides the reader through a discussion of the differential diagnosis for sudden decompensation in a previously healthy neonate, and provides a framework to aid the diagnostic evaluation. The data deposited here summarizes detailed serologic, electroencephalographic, radiologic, and genetic studies that supported the diagnosis of CPT2 deficiency.